ClinVar Miner

Submissions for variant NM_001081.4(CUBN):c.5951C>T (p.Thr1984Met)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002710030 SCV003738605 uncertain significance Inborn genetic diseases 2021-10-12 criteria provided, single submitter clinical testing The c.5951C>T (p.T1984M) alteration is located in exon 40 (coding exon 40) of the CUBN gene. This alteration results from a C to T substitution at nucleotide position 5951, causing the threonine (T) at amino acid position 1984 to be replaced by a methionine (M). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV003611627 SCV004376617 uncertain significance Imerslund-Grasbeck syndrome 2023-07-13 criteria provided, single submitter clinical testing This sequence change replaces threonine, which is neutral and polar, with methionine, which is neutral and non-polar, at codon 1984 of the CUBN protein (p.Thr1984Met). This variant is present in population databases (rs150924438, gnomAD 0.03%). This variant has not been reported in the literature in individuals affected with CUBN-related conditions. ClinVar contains an entry for this variant (Variation ID: 2397431). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt CUBN protein function. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Fulgent Genetics, Fulgent Genetics RCV005036627 SCV005666260 uncertain significance Imerslund-Grasbeck syndrome type 1; Proteinuria, chronic benign 2024-05-16 criteria provided, single submitter clinical testing

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